Canonical Allele Identifier: CA2651916405

Gene: JAG1

Linked Data

• gnomAD v4: 20-10650237-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10650237A>G , CM000682.2:g.10650237A>G	GRCh38
NC_000020.10:g.10630885A>G , CM000682.1:g.10630885A>G	GRCh37
NC_000020.9:g.10578885A>G	NCBI36
NG_007496.1:g.28810T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000254958.10:c.1234+10T>C MANE Select	ENSP00000254958.4:n.1234+10T>C
ENST00000617965.2:n.1823+10T>C
ENST00000254958.9:c.1234+10T>C	ENSP00000254958.4:n.1234+10T>C
ENST00000423891.6:n.1100+10T>C
ENST00000622545.1:c.11+10T>C
NM_000214.2:c.1234+10T>C	NP_000205.1:n.1234+10T>C
NM_000214.3:c.1234+10T>C MANE Select	NP_000205.1:n.1234+10T>C